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Dabrafenib and steroids for the treatment of Erdheim-Chester disease with extensive CNS involvement: a case report.
Yuen, Carlen A; Bao, Silin; Aung, Mya Sandi; Shishodia, Rhea; Kong, Xiao-Tang.
Afiliación
  • Yuen CA; Department of Neuro-Oncology, University of California, Irvine, CA 92868-3201, USA.
  • Bao S; Department of Internal Medicine. Community Regional Medical Center, Fresno, CA 93721, USA.
  • Aung MS; California Health Sciences University, College of Osteopathic Medicine, Clovis, CA 93611, USA.
  • Shishodia R; California Health Sciences University, College of Osteopathic Medicine, Clovis, CA 93611, USA.
  • Kong XT; Department of Neuro-Oncology, University of California, Irvine, CA 92868-3201, USA.
Per Med ; 21(2): 71-78, 2024.
Article en En | MEDLINE | ID: mdl-38275171
ABSTRACT
Erdheim-Chester disease (ECD) is an exceedingly rare non-Langerhans cell CD68+ CD1a- S100- histiocytic multi-organ disease. Diagnosis of ECD is often delayed due to non-specific radiographic findings and heterogeneous lesional tissue. Increasingly, the role of genomic alterations is being recognized for both diagnosis and treatment of ECD. More than half of ECD patients harbor the BRAFV600E mutation. Evaluation for this mutation be can falsely negative on immunohistochemical staining and confirmation with molecular analyses is recommended. We present a case of the 44 year-old male with BRAFV600E-positive ECD treated successfully with steroids followed by single-agent dabrafenib.
Erdheim-Chester disease (ECD) is an exceedingly rare type of histiocytosis (a disorder of white blood cells). The diagnosis of ECD can be challenging because tissue biopsy may not provide a definitive diagnosis. Currently, genetic mutations can be used to support both diagnosis and treatment. We present a case of the 44 year-old male with BRAF V600E -positive ECD who was treated successfully with steroids followed by dabrafenib.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Oximas / Enfermedad de Erdheim-Chester / Proteínas Proto-Oncogénicas B-raf / Imidazoles Límite: Adult / Humans / Male Idioma: En Revista: Per Med Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Oximas / Enfermedad de Erdheim-Chester / Proteínas Proto-Oncogénicas B-raf / Imidazoles Límite: Adult / Humans / Male Idioma: En Revista: Per Med Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido